Cystic fibrosis in adults — MCQs

A 4-year-old boy is brought by his parents to his pediatrician’s office. His mother mentions that the child has been producing an increased number of foul stools recently. His mother says that over the past year, he has had 1 or 2 foul-smelling stools per month. Lately, however, the stools are looser, more frequent, and have a distinct odor. Over the past several years, he has been admitted 4 times with episodes of pneumonia. Genetic studies reveal a mutation on a specific chromosome that has led to a 3 base-pair deletion for the amino acid phenylalanine. Which of the following chromosomes is the defective gene responsible for this boy’s clinical condition?

A 29-year-old man presents for the evaluation of infertility. He has a history of recurrent lower respiratory tract infections, productive cough, abdominal pain, and diarrhea. Physical examination reveals clubbing and bilateral crackles on chest auscultation. Chest X-ray reveals increased pulmonary markings and peripheral bronchi with a ‘tram track’ appearance. Which of the following pathophysiologies is responsible for the patient’s condition?

A 23-year-old woman is brought to the emergency department 8 hours after the sudden onset of shortness of breath and pleuritic chest pain. She has cystic fibrosis and, during the past year, has had 4 respiratory exacerbations that have required hospitalization. Current medications include an inhaled bronchodilator, an inhaled corticosteroid, inhaled N-acetylcysteine, and azithromycin. The patient appears chronically ill. Her temperature is 37.9°C (100.2°F), pulse is 96/min, respirations are 22/min and labored, and blood pressure is 106/64 mm Hg. Pulse oximetry on 2 L/min of oxygen via nasal cannula shows an oxygen saturation of 96%. Examination shows an increased anteroposterior chest diameter. There is digital clubbing. Chest excursions and tactile fremitus are decreased on the right side. On auscultation of the chest, breath sounds are significantly diminished over the right lung field and diffuse wheezing is heard over the left lung field. Which of the following is the most likely underlying cause of this patient's current symptoms?

A 7-year-old girl is brought by her parents to her pediatrician's office for a persistent cough observed over the past month. She was diagnosed with cystic fibrosis 2 years ago and has been receiving chest physiotherapy regularly and the flu vaccine yearly. Her parents tell the pediatrician that their daughter has been coughing day and night for the past month, and produces thick, purulent, foul-smelling sputum. They are concerned because this is the first time such an episode has occurred. She has not had a fever, chills or any other flu-like symptoms. On examination, her blood pressure is 100/60 mm Hg, the pulse is 82/min, and the respiratory rate is 16/min. Breath sounds are reduced over the lower lung fields along with a presence of expiratory wheezing. Her sputum culture comes back positive for an aerobic, non-lactose fermenting, oxidase-positive, gram-negative bacillus. Which of the following prophylactic regimes should be considered after treating this patient for her current symptoms?

A 3-year-old girl with cystic fibrosis is brought to the physician for a follow-up examination. Her mother has noticed that the child has had multiple falls over the past 4 months while walking, especially in the evening. Her current medications include pancreatic enzyme supplements, an albuterol inhaler, and acetylcysteine. She is at the 10th percentile for height and the 5th percentile for weight. Examination shows dry skin, and cone shaped elevated papules on the trunk and extremities. There is an irregularly shaped foamy gray patch on the left conjunctiva. The remainder of the examination shows no abnormalities. Which of the following is the most appropriate next step in management?

A 24-year-old woman presents to her physician's office complaining of a worsening cough with large volumes of mucoid sputum every morning and thick, foul-smelling sputum almost every time she coughs. She says that this cough started about one month ago and has been increasing in intensity. Over-the-counter medications are ineffective. Past medical history is significant for cystic fibrosis diagnosed at the age of 6 years, and pneumonia twice in the past 2 years. Other than a cough, she has no fever or any other concerns. A sputum sample grows aerobic, non-lactose fermenting, oxidase-positive, gram-negative bacillus. Which of the following treatment regimens is the most beneficial for her at this time?

A 2-year-old boy is brought to the physician because of an increasing productive cough with a moderate amount of white phlegm for the past week. He has been treated for pneumonia with antibiotic therapy four times over the past year. A chest x-ray performed 3 months ago showed no anatomical abnormalities. He has had multiple episodes of bulky greasy stools that don't flush easily. He is at 3rd percentile for height and at 5th percentile for weight. His temperature is 38°C (100.4°F), pulse is 132/min, and respirations are 44/min. A few inspiratory crackles are heard in the thorax. The abdomen is soft and nontender. The remainder of the examination shows no abnormalities. Which of the following is the best initial test to determine the underlying etiology of this patient's illness?

A 5-day-old boy is brought to see his pediatrician after his newborn blood screening showed elevated levels of immunoreactive trypsinogen, a marker for cystic fibrosis. The boy was born at 39 weeks gestation after regular prenatal care. He has 2 siblings that tested negative on screening. On physical exam, his vitals are normal and he appears healthy. Which of the following tests should be performed next to evaluate the newborn for cystic fibrosis?

A 14-year-old boy is brought to the physician because of increasing swelling of his legs and generalized fatigue for 1 month. During this period he has also had a productive cough and shortness of breath. He has been unable to carry out his daily activities. He has a history of recurrent respiratory tract infections and chronic nasal congestion since childhood. He has a 3-month history of foul-smelling and greasy stools. He is at 4th percentile for height and weight. His temperature is 37°C (98.6°F), pulse is 112/min, respirations are 23/min, and blood pressure is 104/64 mm Hg. Examination shows clubbing of his fingers and scoliosis. There is 2+ pitting edema of the lower extremities. Jugular venous distention is present. Inspiratory crackles are heard in the thorax. Cardiac examination shows a loud S2. The abdomen is mildly distended and the liver is palpated 2 cm below the right costal margin. Hepato-jugular reflux is present. Which of the following is the most likely diagnosis?

A 24-year-old male with cystic fibrosis is brought to the emergency room by his mother after he had difficulty breathing. He previously received a lung transplant 6 months ago and was able to recover quickly from the operation. He is compliant with all of his medications and had been doing well with no major complaints until 2 weeks ago when he began to experience shortness of breath. Exam reveals a decreased FEV1/FVC ratio and biopsy reveals lymphocytic infiltration. Which of the following components is present in the airway zone characteristically affected by the most likely cause of this patient's symptoms?